title: Absence of nasal bone and brachydactyly: a probable new familial syndrome.
abstract: Brachydactyly is a relatively common congenital abnormality and can be associated with many other malformations. However, brachydactyly in association with absence of nasal bone is rare. Two Chinese siblings with a combination of nasal bone absence and brachydactyly are presented, apparently without other abnormalities. This combination of features do not fit into any previously described syndrome and we suggest that this case represents a new familial syndrome. Molecular genetics screening didn't revealed any specific pathogenic variants in the two siblings.
authors.forename: Hong
authors.initials: H
authors.lastname: Guo
authors.forename: Rui Heng
authors.initials: RH
authors.lastname: Wang
authors.forename: Yun
authors.initials: Y
authors.lastname: Bai
authors.forename: Dong Yun
authors.initials: DY
authors.lastname: Yang
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D059327:Brachydactyly / Q000175:diagnosis* / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D055815:Young Adult
keywords: Brachydactyly; CGH; CNVs; CT; Comparative Genomic Hybridization; Computed Tomography; Copy Number Variations; FND1; Family; Frontonasal Dysplasia-1; GCM syndrome; Gorlin-Chaudhry-Moss syndrome; HOXD13; Homeobox D13; Nasal bone absence; Nasal bone hypoplasia; OMIM; Online Mendelian Inheritance in Man